Sequencing Infants

It is now a common practice to sequence infants to test for a variety of conditions. From a moral standpoint, it seems obvious that these tests should be applied and expanded as rapidly as cost and technology permit. The main argument is, of course, utilitarian: these tests can find dangerous, even lethal conditions that might not be otherwise noticed until it is too late. Even when such conditions cannot be cured, they can often be mitigated when physicians are aware of them early enough. As such, there would seem to be no room for debate on this matter. But, of course, there is.

One concern is the limited availability of medical services. Once an infant is sequenced, parents will need experts to interpret the results. If sequencing is significantly expanded, this will involve dividing limited resources among large numbers of people, which will create the usual problems. While the obvious solution is to train more people to interpret results, this faces the usual problems of expanding the number of available medical experts. Another resource problem will arise when problems are found—parents who have the means will presumably want to address all the issues the tests expose, but it is likely that there will not be enough doctors for everyone. Also of concern is the fact that conditions that can be found by sequencing can manifest at different times: some will become problems early in life, others manifest later. This raises the problem of distributing access to the limited number of specialists so that infants with immediate needs get priority access.

One obvious reply to the concerns about access is that this is not a special problem for infant sequencing; it runs broadly across health care. And, of course, there is already a “solution”: those with money and connections get priority access to care—the same “solution” will presumably also be applied in the case of sequencing infants.

Another rather sensible reply to these concerns is that these are not problems with sequencing, but problems with the medical system in general. That is, shortages of medical experts and difficulty in accessing the system based on need. Sequencing infants will, of course, put more burden on the system and this does raise the moral question of whether the burden will be worth the return. On the face of it, of course, improving medical care for infants would seem to be worth it.

A second concern about sequencing is that, like other medical tests, it might end up doing more harm than good. On the face of it, this would seem absurd worry. After all, knowing about potential health threats ahead of time is analogous to soldiers knowing of an upcoming ambush well in advance, or a community knowing about an incoming storm long before it arrives. In all these cases, foreknowledge is good because it allows people to prepare ahead of time and thus makes it more likely that they will succeed. As such, sequencing is the right thing to do.

It might be countered, with great emotion, that if even a single child is saved by rapidly expanding sequencing, then it would be worth it. The rational reply is, of course, that it would not be worth it if expanding the sequencing too quickly ended up hurting many children. As such, the right thing to do is to address the possible risks rationally and avoid getting led astray by fear and hope.

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I really don’t see the problem with regard to a shortage of doctors or the cost of the tests. This technology has moved forward at a tremendous pace, and the results of early detection tend toward early treatment which is far less expensive, far less involved, and far less chronic than treatment later – treatment for a disease that has taken hold and may lead to a lifetime of issues.

In her March, 2017 article in Scientific American, Bonnie Rochman describes the case of Cameron Garcia, a newborn in Texas that underwent this genetic screening. Unfortunately, the screening at the time did not include a test for SCID, aka “Bubble Boy” syndrome, which affected Cameron. Had he had the test, he would have undergone a simple bone marrow transplant and been cured – but without it, when he developed an infection that did not resolve, he had to undergo a series of expensive tests before an accurate diagnosis could be made. Clearly, the cost, both in dollars and in time of the screening and the transplant were far less than the tests and treatments required later. As it turned out, Cameron Diaz died at nine months of age – which, in pure utilitarian terms, was probably a blessing. He was facing a lifetime of tests, treatments, and of isolation.

The SA article also quotes geneticist Robert C. Green, the co-lead of the “BabySeq Project”, a screening study taking place in Boston at one of four federally funded study sites.

…”“We are moving to a world where the technology will get so good and the cost will get so low that it will be very appealing to apply sequencing to not only sick people but well people,”

All one has to do is follow the history of technology – both medical and otherwise, to understand the truth of this prediction.

In that context, I think that this kind of testing will ultimately lead to a more efficient medical “system”, one that is not bogged down with diagnostic testing and ongoing treatment for chronic conditions that can be cured in infancy.

The study goes deeper than that, though – and addresses some of the concerns you bring up in your post. They are studying the parents as well as the children, to determine whether this kind of knowledge is generally helpful, or causes undue anxiety among various populations.

In a free market, this technology can be a choice, and the testing & information can be on a “want to know” basis. There will be some who object to the testing, and would want to opt out; there will be others who will want to know in case there are simple, easy treatments available that, as in Carmen’s case, might spare a lifetime of pain and expense.

Government control, however, is what will bring up the moral issues. Is screening a “right”? Is it an “obligation, a mandate?” Can the government require this kind of testing as a means of saving future healthcare dollars? I can see all sorts of ethical dilemmas arising from this – similar to those arising from mandated vaccination. Whereas the latter, of course, has the added dangers of un-vaccinated children spreading diseases that have been all but eradicated, the dilemmas created by infant screening would fall more into the category of “Future Burden To Society”, the burden, of course, being the additional tax dollars required to support a life whose ongoing expense could have been mitigated or eliminated by simple testing.

In either case, however, the studies at the BabySeq Project and others, show that there is very little of the kind of harm caused by anxiety and other ancillary issues. From the SA article,

“In a lead-up to the study, Green and his colleagues surveyed parents soon after their child’s birth to ask if they would want to sequence their baby’s DNA. They found a groundswell of interest in newborn sequencing. Three months later they went into greater detail, explaining to parents exactly what kinds of data that genome sequencing could generate about their children—cancer risk, for example, or predisposition for Parkinson’s disease.

The percentage of parents who remained interested hardly budged. “This suggests there is a gigantic appetite out there for this, even in healthy babies,” Green says. “It is going to be hard to resist.”

Balance between choice and government mandate has been successfully achieved in the past – in dozens of areas where a simple blood test can identify diseases or conditions that can be managed or treated much more easily as a result of their early detection. Genetic screening is merely a technological improvement on current practice.

One shortcoming in your post, one that is common in addressing issues like this, is that predictions do not, and cannot, imagine other advances as a result of this kind of testing.

““If you imagine a world where every baby could be sequenced quickly, how would that information be used by their doctors to facilitate their care, to make a diagnosis, to prescribe medication?” Green asks. “We’re trying to model that situation at a time when it’s not really easy or cheap to sequence and doctors aren’t used to dealing with it. We’re trying to model the future.”

But not a speculative, far-off future, if Green’s predictions are correct. “In five years, I am suggesting that sequencing will be given away as a freebie,” he asserts. “

Of course, looking forward and observing how conversations like this become very political very fast, I think the biggest moral dilemma will be about abortion. I can see a lot of support for postpartum or “after-birth” abortion, as a result of genetic sequencing. Just like with Medical Marijuana, where (in my state of New York, at least) where there is a list of thirteen state-approved ailments for which weed can be legally prescribed, it’s not too much of a stretch to see the government come out with a list of diseases that, when screened for properly and shown to be positive, would make after-birth abortion (aka “infanticide”) legal.

Or, to avoid this whole infanticide issue, or at least soften it a bit – I can also see some heavy government funding being applied to in-utero screening, so that the only issue would be the state interest in the life of the unborn after 26 weeks, as described in Roe V. Wade. It would not take much of a lawyer to make the argument that if the state has an interest in the life of an unborn child, that interest would extend to new and previously undetected future ailments that would justify late-term and even partial-birth abortion. One thing that infant screening is able to show with increasing accuracy is ailments that will manifest later in life – after five years, after ten, or in adulthood. Currently, the studies being done by organizations like the BabySeq Project are limiting the results it returns to parents to only those gene changes that are linked to diseases that take root in childhood – but that can and most definitely will change. Will we then start including “longevity” in our discussions of “quality of life”?